{
    "disease_id": "DOID:0110994",
    "recommended_name": {
        "id": "DOID:0110994",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0110994",
        "name": "Joubert syndrome 25",
        "description": "A Joubert syndrome characterized by delayed psychomotor development, oculomotor apraxia, and molar tooth sign on brain MRI that has_material_basis_in homozygous or compound heterozygous mutation in the CEP104 gene on chromosome 1p36."
    },
    "synonyms": [
        {
            "id": "DOID:0110994",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110994",
            "name": "JBTS25",
            "description": ""
        },
        {
            "id": "MONDO:0014770",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014770",
            "name": "Joubert syndrome 25",
            "description": "Any Joubert syndrome in which the cause of the disease is a mutation in the CEP104 gene."
        },
        {
            "id": "MONDO:0014770",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014770",
            "name": "CEP104 Joubert syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0014770",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014770",
            "name": "JBTS25",
            "description": ""
        },
        {
            "id": "MONDO:0014770",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014770",
            "name": "Joubert syndrome 25",
            "description": ""
        },
        {
            "id": "MONDO:0014770",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014770",
            "name": "Joubert syndrome caused by mutation in CEP104",
            "description": ""
        },
        {
            "id": "MONDO:0014770",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014770",
            "name": "Joubert syndrome type 25",
            "description": ""
        },
        {
            "id": "MIM:616781",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/616781",
            "name": "Joubert syndrome 25",
            "description": "Joubert syndrome 25"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0110994"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0110994",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110994",
            "categories": []
        },
        {
            "id": "MONDO:0014770",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014770",
            "categories": []
        },
        {
            "id": "MIM:616781",
            "database": "MIM",
            "url": "https://www.omim.org/entry/616781",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0A8M2BEF8-1",
            "uniprot_ac": "A0A8M2BEF8",
            "uniprot_id": "A0A8M2BEF8_DANRE",
            "refseq_ac": "XP_005167010",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Centrosomal protein of 104 kDa",
                    "type": "recommended"
                },
                {
                    "name": "centrosomal protein of 104 kDa isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "cep104",
                    "type": "recommended"
                },
                {
                    "name": "cep104",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8M2BEF8-1",
            "evidence": [
                {
                    "id": "0110994",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110994"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q80V31-1",
            "uniprot_ac": "Q80V31",
            "uniprot_id": "CE104_MOUSE",
            "refseq_ac": "NP_808341",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Centrosomal protein of 104 kDa",
                    "type": "recommended"
                },
                {
                    "name": "Cep104",
                    "type": "synonym"
                },
                {
                    "name": "centrosomal protein of 104 kDa isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "centrosomal protein of 104 kDa",
                    "type": "synonym"
                },
                {
                    "name": "glycine-, glutamate-, thienylcyclohexylpiperidine-binding protein",
                    "type": "synonym"
                },
                {
                    "name": "likely ortholog of H. sapiens glycine-, glutamate-, thienylcyclohexylpiperidine-binding protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Cep104",
                    "type": "recommended"
                },
                {
                    "name": "A930027E11",
                    "type": "synonym"
                },
                {
                    "name": "Cep104",
                    "type": "synonym"
                },
                {
                    "name": "Kiaa0562",
                    "type": "synonym"
                },
                {
                    "name": "mKIAA0562",
                    "type": "synonym"
                }
            ],
            "record_id": "Q80V31-1",
            "evidence": [
                {
                    "id": "0110994",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110994"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O60308-1",
            "uniprot_ac": "O60308",
            "uniprot_id": "CE104_HUMAN",
            "refseq_ac": "NP_055519",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Centrosomal protein of 104 kDa",
                    "type": "recommended"
                },
                {
                    "name": "Cep104",
                    "type": "synonym"
                },
                {
                    "name": "centrosomal protein 104kDa",
                    "type": "synonym"
                },
                {
                    "name": "centrosomal protein of 104 kDa",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "CEP104",
                    "type": "recommended"
                },
                {
                    "name": "CEP104",
                    "type": "synonym"
                },
                {
                    "name": "CFAP256",
                    "type": "synonym"
                },
                {
                    "name": "GlyBP",
                    "type": "synonym"
                },
                {
                    "name": "JBTS25",
                    "type": "synonym"
                },
                {
                    "name": "KIAA0562",
                    "type": "synonym"
                },
                {
                    "name": "MRT77",
                    "type": "synonym"
                },
                {
                    "name": "ROC22",
                    "type": "synonym"
                }
            ],
            "record_id": "O60308-1",
            "evidence": [
                {
                    "id": "616781",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/616781"
                },
                {
                    "id": "0110994",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110994"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "D3Z8X7-1",
            "uniprot_ac": "D3Z8X7",
            "uniprot_id": "CE104_RAT",
            "refseq_ac": "NP_659550",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Centrosomal protein of 104 kDa",
                    "type": "recommended"
                },
                {
                    "name": "Cep104",
                    "type": "synonym"
                },
                {
                    "name": "Gly-, L-Glu and TCP-binding protein",
                    "type": "synonym"
                },
                {
                    "name": "GlyBP",
                    "type": "synonym"
                },
                {
                    "name": "Glycine-, glutamate- and thienylcyclohexylpiperidine-binding protein",
                    "type": "synonym"
                },
                {
                    "name": "centrosomal protein of 104 kDa",
                    "type": "synonym"
                },
                {
                    "name": "gly-, L-Glu and TCP-binding protein",
                    "type": "synonym"
                },
                {
                    "name": "glycine-, glutamate- and thienylcyclohexylpiperidine-binding protein",
                    "type": "synonym"
                },
                {
                    "name": "glycine-, glutamate-, thienylcyclohexylpiperidine-binding protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Cep104",
                    "type": "recommended"
                },
                {
                    "name": "Cep104",
                    "type": "synonym"
                },
                {
                    "name": "GlyBP",
                    "type": "synonym"
                }
            ],
            "record_id": "D3Z8X7-1",
            "evidence": [
                {
                    "id": "0110994",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110994"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VIU5-1",
            "uniprot_ac": "Q9VIU5",
            "uniprot_id": "Q9VIU5_DROME",
            "refseq_ac": "NP_609981",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Centrosomal protein of 104 kDa",
                    "type": "recommended"
                },
                {
                    "name": "CG10137-PA",
                    "type": "synonym"
                },
                {
                    "name": "uncharacterized protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Cep104",
                    "type": "recommended"
                },
                {
                    "name": "CG10137",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG10137",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG10137",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VIU5-1",
            "evidence": [
                {
                    "id": "0110994",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110994"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0110994"
}